Canonical Allele Identifier: CA2580089545

Gene: FBN1

Linked Data

• ClinVar Variation Id: 2015363
• ClinVar RCV Id: RCV002839414

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48463946_48463957del , CM000677.2:g.48463946_48463957del	GRCh38
NC_000015.9:g.48756143_48756154del , CM000677.1:g.48756143_48756154del	GRCh37
NC_000015.8:g.46543435_46543446del	NCBI36
NG_008805.2:g.186834_186845del , LRG_778:g.186834_186845del

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.5009_5020del	ENSP00000453958.2:p.Tyr1670_Ile1673del
ENST00000674301.2:c.5009_5020del	ENSP00000501333.2:p.Tyr1670_Ile1673del
ENST00000684448.1:n.3683_3694del
ENST00000316623.10:c.5009_5020del MANE Select	ENSP00000325527.5:p.Tyr1670_Ile1673del
ENST00000674301.1:c.8_19del	ENSP00000501333.1:p.Tyr3_Ile6del
ENST00000316623.9:c.5009_5020del	ENSP00000325527.5:p.Tyr1670_Ile1673del
ENST00000537463.6:c.*772_*783del	ENSP00000440294.2:n.*772_*783del
ENST00000559133.5:c.316_327del
NM_000138.4:c.5009_5020del , LRG_778t1:c.5009_5020del	NP_000129.3:p.Tyr1670_Ile1673del
NM_000138.5:c.5009_5020del MANE Select	NP_000129.3:p.Tyr1670_Ile1673del